MEF2C

The information for this summary of MEF2C-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full MEF2C Gene Guide

The online Gene Guide includes more information about MEF2C such as the chance of having another child with this condition, behavior and development concerns linked to MEF2C-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

MEF2C-related syndrome is also called neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language, and MEF2C Haploinsufficiency Syndrome (MCHS). For this webpage, we will be using the name MEF2C-related syndrome to encompass the wide range of variants observed in the people identified.

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View all reports below by clicking on “Previous Quarterly Reports” at the bottom of this page.

What is MEF2C-related syndrome?

MEF2C-related syndrome happens when there are changes to the MEF2C gene. These changes can keep the gene from working as it should.

Key Role

The MEF2C gene is important for muscle and brain cells.

Symptoms

Because the MEF2C gene is important in the development and function of brain cells, many people who have MEF2C-related syndrome have:

  • Intellectual disability and/or developmental delay
  • Speech difficulties or no speech
  • Low muscle tone
  • Autism or features of autism
  • Seizures
  • Heart issues
  • Small head size
  • Gastrointestinal issues like constipation and reflux
  • Feeding issues
  • Sleep issues
  • Abnormal brain imaging

How many people have MEF2C-related syndrome?

As of 2024, 120 people with MEF2C-related syndrome have been identified in a medical clinic. The first case of MEF2C-related syndrome was described in 2010.

Learn more about MEF2C and connect with other Simons Searchlight families with the resources below.

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Support Resources

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GeneReviews

GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

There is currently no GeneReviews for MEF2C.

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Research Article Summaries

We currently do not have any article summaries for MEF2C, but we add resources to our website as they become available.

The information available about MEF2C is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for MEF2C articles can be found here.

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about MEF2C genetic changes by taking part in our research. You can learn more about the project and sign up here.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.

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Family Stories

We do not currently have any stories from MEF2C families.

Click here to share your family’s story!

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Previous Quarterly Reports